Living with LRP5-related primary osteoporosis
A rare inherited bone condition with low bone density and repeated fractures from small injuries, starting in childhood or the teen years.
Understanding LRP5-related primary osteoporosis
It causes compression fractures in the spine and repeated fractures in the arms and legs from low-impact injuries. This leads to bone pain and trouble moving. People typically have symptoms in childhood or adolescence.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Low bone density
- Spine compression fractures
- Repeated fractures from low-impact injuries
- Bone pain
- Trouble moving (impaired mobility)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in LRP5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the LRP5 gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: low density lipoprotein receptor-related protein 5 related primary osteoporosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with LRP5-related primary osteoporosis.
Explore research for LRP5-related primary osteoporosis
Explore actively recruiting LRP5-related primary osteoporosis studies with HealthSpark.
Find actively recruiting studies for LRP5-related primary osteoporosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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